Reactivities: | Human |
Presku: | AAP67990 |
Size: | 100ug |
Weight: | 22kDa |
Gene: | 27077 |
Format: | Lyophilized powder |
Target: | This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. |
Alternative names: | B9; EPPB9; MKS9; MKSR1 |